A 19-year-old Caucasian woman was referred to the emergency room and thereafter to the department of ophthalmology complaining for bilateral decrease of visual acuity and severe pain. A complete ophthalmological evaluation was performed. Best-corrected visual acuity (BCVA) was LogMAR 0.3 in the right eye (RE) and LogMAR 0.5 in the left eye (LE). Intraocular pressure (IOP) was 28 and 38 mm Hg in the RE and LE, respectively. The patient showed a shallow anterior chamber and spherical equivalent refractive error −29.0 diopters (D) in the RE and −30.0 D in the LE. The diagnosis of bilateral angle closure glaucoma, secondary to highly myopic, forward dislocated lens was made, in the setting of spherophakia. The ultra-sound biomicroscopy images confirmed the diagnosis. Clear lens extraction was promptly performed with resolution of ocular hypertension and restoration of BCVA. In view of the frequent systemic association, family members also underwent ophthalmological evaluation. The 13-year-old sibling showed mild myopia and borderline IOP. He was administered topical β-blockers and observation. Genetic counseling did not reveal mutations usually associated with spherophakia or systemic conditions. This case report highlights the variable spectrum of clinical expression in spherophakia; therefore, ophthalmological treatment should be tailored according to clinical presentation. Systemic evaluation and genetic counseling are also recommended in the suspicion of spherophakia.
Case Rep Ophthalmol 2021;12:927–933

中文翻译：

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两个年轻的东欧兄弟姐妹的双侧孤立性囊肿：病例报告

一名 19 岁的白人女性因双侧视力下降和剧烈疼痛被转诊至急诊室，随后被转诊至眼科。进行了完整的眼科评估。最佳矫正视力 (BCVA) 为右眼 (RE) 的 LogMAR 0.3 和左眼 (LE) 的 LogMAR 0.5。RE 和 LE 的眼压 (IOP) 分别为 28 和 38 mm Hg。患者在 RE 中显示出浅前房和等效球面屈光不正 -29.0 屈光度 (D)，在 LE 中显示 -30.0 D。诊断为双侧闭角型青光眼，继发于高度近视，晶状体前脱位，在球形晶体的情况下。超声生物显微镜图像证实了诊断。及时进行透明晶状体摘除，解决高眼压并恢复 BCVA。鉴于频繁的系统关联，家庭成员也接受了眼科评估。这位 13 岁的兄弟姐妹表现出轻度近视和临界眼压。他被给予局部β-受体阻滞剂和观察。遗传咨询没有发现通常与球形或全身性疾病相关的突变。该病例报告强调了球形吞咽症临床表现的可变范围；因此，眼科治疗应根据临床表现进行调整。怀疑球形食道者也建议进行系统评估和遗传咨询。这位 13 岁的兄弟姐妹表现出轻度近视和临界眼压。他被给予局部β-受体阻滞剂和观察。遗传咨询没有发现通常与球形或全身性疾病相关的突变。该病例报告强调了球形吞咽症临床表现的可变范围；因此，眼科治疗应根据临床表现进行调整。怀疑球形食道者也建议进行系统评估和遗传咨询。这位 13 岁的兄弟姐妹表现出轻度近视和临界眼压。他被给予局部β-受体阻滞剂和观察。遗传咨询没有发现通常与球形或全身性疾病相关的突变。该病例报告强调了球形吞咽症临床表现的可变范围；因此，眼科治疗应根据临床表现进行调整。怀疑球形食道者也建议进行系统评估和遗传咨询。眼科治疗应根据临床表现进行调整。怀疑球形食道者也建议进行系统评估和遗传咨询。眼科治疗应根据临床表现进行调整。怀疑球形食道者也建议进行系统评估和遗传咨询。
Case Rep Ophthalmol 2021；12:927–933